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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-83568582-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=83568582&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SH3GL3",
"hgnc_id": 10832,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001324182.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.3911,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21163493394851685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 347,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1044,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003027.5",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000427482.7",
"protein_coding": true,
"protein_id": "NP_003018.3",
"strand": true,
"transcript": "NM_003027.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 347,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1044,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000427482.7",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003027.5",
"protein_coding": true,
"protein_id": "ENSP00000391372.2",
"strand": true,
"transcript": "ENST00000427482.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000563901.5",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "n.*36G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456249.1",
"strand": true,
"transcript": "ENST00000563901.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000563901.5",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "n.*36G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456249.1",
"strand": true,
"transcript": "ENST00000563901.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 397,
"cds_end": null,
"cds_length": 1110,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903482.1",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573541.1",
"strand": true,
"transcript": "ENST00000903482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 360,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1083,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324182.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311111.1",
"strand": true,
"transcript": "NM_001324182.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1068,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301109.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288038.1",
"strand": true,
"transcript": "NM_001301109.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1068,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324183.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311112.1",
"strand": true,
"transcript": "NM_001324183.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1068,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000324537.5",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320092.5",
"strand": true,
"transcript": "ENST00000324537.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 324,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 330,
"cds_end": null,
"cds_length": 975,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951042.1",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.172G>T",
"hgvs_p": "p.Val58Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621101.1",
"strand": true,
"transcript": "ENST00000951042.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 312,
"aa_ref": "V",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 916,
"cds_end": null,
"cds_length": 939,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324184.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311113.1",
"strand": true,
"transcript": "NM_001324184.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 312,
"aa_ref": "V",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 765,
"cds_end": null,
"cds_length": 939,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324186.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311115.1",
"strand": true,
"transcript": "NM_001324186.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 427,
"cds_end": null,
"cds_length": 837,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001301108.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.34G>T",
"hgvs_p": "p.Val12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288037.1",
"strand": true,
"transcript": "NM_001301108.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 578,
"cds_end": null,
"cds_length": 837,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324185.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.34G>T",
"hgvs_p": "p.Val12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311114.1",
"strand": true,
"transcript": "NM_001324185.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 478,
"cds_end": null,
"cds_length": 837,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324187.1",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.34G>T",
"hgvs_p": "p.Val12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311116.1",
"strand": true,
"transcript": "NM_001324187.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1068,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011521889.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520191.1",
"strand": true,
"transcript": "XM_011521889.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 520,
"cds_end": null,
"cds_length": 837,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017022486.3",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.34G>T",
"hgvs_p": "p.Val12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877975.1",
"strand": true,
"transcript": "XM_017022486.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 237,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 585,
"cds_end": null,
"cds_length": 714,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047432940.1",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288896.1",
"strand": true,
"transcript": "XM_047432940.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 217,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4826,
"cdna_start": 585,
"cds_end": null,
"cds_length": 654,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521892.3",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "c.265G>T",
"hgvs_p": "p.Val89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520194.1",
"strand": true,
"transcript": "XM_011521892.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_125370.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "n.434G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_125370.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_136711.2",
"gene_hgnc_id": 10832,
"gene_symbol": "SH3GL3",
"hgvs_c": "n.578G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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